Canonical Allele Identifier: CA2390656

Gene: IMPDH2

Linked Data

• dbSNP Id: rs761002300
• ExAC: 3:49064404 C / T
• gnomAD v2: 3-49064404-C-T
• gnomAD v3: 3-49026971-C-T
• gnomAD v4: 3-49026971-C-T
• COSMIC: COSM1210645
• MyVariant Identifiers: chr3:g.49064404C>T (hg19) ; chr3:g.49026971C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026971C>T , CM000665.2:g.49026971C>T	GRCh38
NC_000003.11:g.49064404C>T , CM000665.1:g.49064404C>T	GRCh37
NC_000003.10:g.49039408C>T	NCBI36
NG_012091.1:g.7472G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2648G>A	ENSP00000515567.1:p.Arg883His
ENST00000703937.1:c.*1709G>A	ENSP00000515568.1:n.*1709G>A
ENST00000326739.9:c.608G>A MANE Select	ENSP00000321584.4:p.Arg203His
ENST00000429182.6:c.608G>A	ENSP00000393525.2:p.Arg203His
ENST00000442157.2:c.533G>A	ENSP00000403502.2:p.Arg178His
ENST00000462980.2:n.1123G>A
ENST00000472328.2:n.674G>A
ENST00000491610.2:n.495G>A
ENST00000676607.1:n.904G>A
ENST00000676627.1:n.1338G>A
ENST00000676708.1:n.1815G>A
ENST00000676864.1:n.1684G>A
ENST00000677010.1:c.644G>A	ENSP00000503089.1:p.Arg215His
ENST00000677108.1:n.2441G>A
ENST00000677168.1:n.1080G>A
ENST00000677185.1:n.1098G>A
ENST00000677205.1:n.1319G>A
ENST00000677344.1:n.1809G>A
ENST00000677480.1:c.*285G>A	ENSP00000504378.1:n.*285G>A
ENST00000677519.1:n.1318G>A
ENST00000677593.1:n.1091G>A
ENST00000677740.1:n.2040G>A
ENST00000677991.1:n.1781G>A
ENST00000678001.1:n.1101G>A
ENST00000678085.1:n.1091G>A
ENST00000678177.1:n.2384G>A
ENST00000678603.1:n.1686G>A
ENST00000678724.1:c.533G>A	ENSP00000503874.1:p.Arg178His
ENST00000678920.1:n.766G>A
ENST00000679019.1:n.1305G>A
ENST00000679117.1:c.*423G>A	ENSP00000503240.1:n.*423G>A
ENST00000679339.1:n.1376G>A
ENST00000326739.8:c.608G>A	ENSP00000321584.4:p.Arg203His
ENST00000429182.5:c.402G>A
ENST00000442157.1:c.533G>A	ENSP00000403502.1:p.Arg178His
ENST00000462980.1:n.510G>A
ENST00000491610.1:n.495G>A
NM_000884.2:c.608G>A	NP_000875.2:p.Arg203His
XM_006713128.2:c.818G>A	XP_006713191.1:p.Arg273His
XM_006713128.3:c.818G>A	XP_006713191.1:p.Arg273His
XM_017006349.1:c.743G>A	XP_016861838.1:p.Arg248His
XM_017006350.1:c.743G>A	XP_016861839.1:p.Arg248His
NM_000884.3:c.608G>A MANE Select	NP_000875.2:p.Arg203His